Canonical Allele Identifier: CA2577521773

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15456588G>A , CM000665.2:g.15456588G>A	GRCh38
NC_000003.11:g.15498095G>A , CM000665.1:g.15498095G>A	GRCh37
NC_000003.10:g.15473099G>A	NCBI36
NG_009032.1:g.70164C>T
NG_009032.2:g.70164C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.955-9C>T MANE Select	NP_005668.2:n.955-9C>T
ENST00000383788.10:c.955-9C>T MANE Select	ENSP00000373298.3:n.955-9C>T
NM_005677.3:c.955-9C>T	NP_005668.2:n.955-9C>T
NM_080538.2:c.925-9C>T	NP_536799.1:n.925-9C>T
NM_080539.3:c.853-9C>T	NP_536800.2:n.853-9C>T
NM_080539.4:c.853-9C>T	NP_536800.2:n.853-9C>T
ENST00000383781.8:c.925-9C>T	ENSP00000373291.3:n.925-9C>T
ENST00000383786.9:c.853-9C>T	ENSP00000373296.3:n.853-9C>T
ENST00000383788.9:c.955-9C>T	ENSP00000373298.3:n.955-9C>T
ENST00000603808.5:c.955-9C>T	ENSP00000474271.1:n.955-9C>T
ENST00000604401.2:n.811-9C>T
ENST00000679838.1:c.*717-9C>T	ENSP00000505708.1:n.*717-9C>T
ENST00000680240.1:n.867-9C>T
ENST00000680545.1:n.721-9C>T
ENST00000681097.1:c.815-9C>T	ENSP00000505397.1:n.815-9C>T
ENST00000681222.1:n.4437C>T